MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 816; N. variants: 57
Disease: Methylmalonic acidemia ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.010 Biomarker phenotype BEFREE In contrast, methionine formation was reduced in cells from patients with methylenetetrahydrofolate reductase (MR) deficiency (MR mutant, n = 11, 0.05-0.44), combined methylmalonic aciduria/homocystinuria [cobalamin(cbl)C/D mutant, n = 12, 0.014-0.13), and methionine synthase deficiency (MS mutant, n = 3, 0.04-0.23). 8979304 1997